Oversharing & Under Caring

This feels like the end of a nine-year journey, but also the start of a new one. Its started on the 23rd June 2010, when I welcomed my daughter into this world and ended on Tuesday when we finally got a diagnosis for her issues.

We already had two false starts quite early on. Having a semi-diagnosis to them be ruled out by MRI. Initial genetic testing resulted in no answers, but almost three years ago, we were offered the chance to take part in the 100,000 genomes project - and this has found a diagnosis.

Lucie has a ridiculously rare genetic condition called (ready for this one) mef2c haploinsufficiency syndrome.  A condition that only affects around 100 people in the world, but its effects run deep and affect everything she does. As much as this changes anything about the care and difficulties we face - it is hard for me to sum up my feelings.

Parental Vindication

This is the only word I can think of to describe my feelings at this moment in time. As much as I knew that all of Lucie issues were because of her disability, and all of the stress that comes with it was no-ones fault. I still felt responsible and knew that some people thought that at least some of the things we experienced were because of our parenting.

Yet as the doctor read off the issues associated with the condition, it was if he were describing Lucie thoroughly. The image on the front of the information leaflet could be Lucie in a few years. Now all I can feel is relief and vindication for Lucie’s issues.

The weight of feeling responsible has been lifted after nine years, and I have no words to describe the feeling. It is one that I will deal with over the coming weeks and months, but I am already starting to feel the effects.

A diagnosis makes no difference in the way I treat Lucie, it makes no difference to Lucie herself, but it lifts the weight that was becoming too large to bear. I am so thankful that the NHS gave us this opportunity to go so in-depth with genetic sequencing and make such a difference to our lives.

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